Waxing Philosophical: musings about prenatal genetic testing

On one of my frequented message boards, every time a person posts anything related to Down syndrome a woman chimes in with negative links and information to “keep the conversation balanced” about Down syndrome. Based on her personal experience of having a congenital heart defect (CHD), she purports that it’s an unacceptable diagnosis to have Down syndrome and CHD. Unacceptable as in encouraging people to terminate in all cases where both are indicated prenatally. (BTW, Kyle has a CHD. With no symptoms.)

There are other people too. Apparently they wait for anything to be posted on the message boards about Down syndrome, then they pounce. What is their agenda? Do they have a vendetta against people with Down syndrome? Why are these women so insistent that people know their misinformed versions of the truth?

The most unsettling aspect is that other women who are trying to make a decision about their pregnancy might actually be listening. Which propels me into a spiral of deep thought. So without further ado, I give you my philosophical musings.

Whose advice do you choose to follow?

You heard about a great new restaurant and you’re wondering if you should try it. Your coworker tells you she drove past it and it looked questionable. She says she asked around and although none of the people she asked had eaten there, they all heard that the food was no good.

The next day you bump into your neighbor while getting your mail. You see him holding a takeout container from the new restaurant, and ask him what he thought of it. He tells you it is a great restaurant, and although the service was a little slow, it was well worth the trouble for the excellent food. He tells you he knows a lot of other people who ate there and love the food too.

Let’s try an experiment: Imagine you are a high school junior just starting to think about college. You have your heart set on The Big Catholic Football School with A Good Academic Reputation. But your mom and dad want you to have options, so they make you go onto the websites of a few other schools and ask them to send you their application materials. When these arrive in the mail, you toss them into a corner where they sit for months and months. After all, your mind’s already mostly made up—there’s really only one school you’re thinking of going to.

Then, middle of senior year, calamity: You get rejected by The Big Catholic Football School with A Good Academic Reputation. Your dreams are shattered. Everything you were hoping for seems lost. The life you were going to live now seems unreachable to you. You plunge into the slough of despond.

Your parents, who love you, hate to see you this way, all mopey and certain your life is ruined. “What about the pamphlets from those other schools?” they ask. “Maybe you should have a look at them. They might not be as bad as you think. Maybe one of those schools is where you’re really supposed to end up. Something good could come of this eventually.”

Though your heart is heavy, you reach for the pile of brochures. You open the first one and, despite yourself, you like what you see. The campus is beautiful. There seem to be opportunities for study abroad, athletics, academic excellence, a rich community life—all the things you were looking to get out of college. This school has everything you were expecting from The Big Catholic Football School with A Good Academic Reputation. What strikes you the most is that the students look happy. They are beaming in fact. They are having the time of their lives. They look like they wouldn’t change life at this school for anything in the world.

Then you come to the back page of the brochure, and you are shocked to read the following paragraph:

Look, we know you didn’t get into your first choice school (that is after all why you are reading our brochure). We know you are vulnerable and feeling sorry for yourself. But we feel like we ought to mention that a lot of young people in your situation choose not to go to college at all. Despite the happy smiling pictures we’ve been showing you, a lot of first year college students get very depressed. Ever heard of the Freshman 15? Well, it’s a thing. Also, you could get an STD if you came here. Or someone could accuse you of rape. Or you could get so drunk that you fall off the back of a frat house porch and end up paralyzed. Even if you decide to come here, our degree probably won’t do much to help you get a job afterward. And you’ll have a boatload of debt to pay off. For all these reasons—and others—a lot of people in your situation just choose to skip college. Consider it.

Just to be clear: We’re not telling you what to do. We just want you to have this information.

You are pregnant and get a prenatal genetic screening recommended by your doctor. You later realize that part of this screening was a genetic test to assess you baby’s cancer risk. The genetic counselor tells you that most likely your baby will get cancer in his lifetime based on the testing results. She encourages you to decide if you want to bring a child into the world with such a life-threatening risk.

When I originally mulled over the above, I had written a note on scrap paper: “if there was a prenatal cancer test, would it force people to make a decision?”

Then in writing this post, I googled “prenatal genetic cancer testing” and the first site that came up was cancer.gov, a site run by the National Cancer Institute at the National Institutes of Health (USA). The first sentence in the google search results is “A positive result on a prenatal genetic test for cancer risk may influence a decision about whether to continue a pregnancy.” I was surprised to learn that prenatal genetic cancer testing is not something to ponder in the future–it’s already here.

The answers to the first two questions are clear (to me):Whose advice do you choose to follow? The person with first-hand experience.What sort of information should be provided to expectant parents?
The information that affirms their child is worthy of life.

Where do we draw the line?

This question means so many different things to people. Some people think the line should be drawn between a perfect life and a life of perceived future suffering.

Life is filled with unknowns (and there is no “perfect life”). So because a scientist created a test that can tell you if your baby has a higher probability of dying of cancer before age thirty, but nothing of the life he will live before that, does that make his life less worthy of living? Because a scientist created a test that can assess the number of chromosomes your child will have, but nothing of the life you will experience together, does that compel you to make a decision about bringing him into the world?

It goes back to an age-old question, a common subject of literature and film. Do you want to know your future?

Knowledge may be power, but in the case of prenatal information, it can create a necessity for action. It turns parents into Abraham at the altar with Isaac, except it’s not God compelling them to yield the knife.

Thank you, Wendy! I didn’t take it down, but I think I messed up the link that was emailed to followers by changing the date it was published (it had a published date for when I saved it as a draft instead). I republished it so hopefully it will come again in a new email. Thanks for the comments! Katie

Having a child is not like going to a college or, anything like trying a restaurant. Yes, there are many parents who find that they are on a ride they cannot well handle with a child that has issues and will never be self sufficient. This happens with “normal” pregnancies, and “normal children” as well, but some people do want to cut down on the odds, which is really all anyone can do.

Every year, many kids do not get into First Choice College, and get to the same point of independence , sufficiency going to other schools. THat isn’t always the case with children who are not going to be able to be on their own. The early years are often not the issue; it’s the late years when hard decisions have to be made.

I don’t believe that only the positives should be laid out and encouraged. People do decide to risk known genetic issues, family traits, cancer history, other disease history and have a child, and DS is just one other such factor. Some will choose to go ahead despite the odds, some even with a certainty of conditions happening, and some will not risk the odds at all. Most will go with the odds within certain parameters.

I had children, fully knowing that cancer is prevalent in my family. It is a scary thought that I refuse to ponder, that someone, more than one of us, maybe all of us will have to fight that fight. And, we got hit hard and early with a pediatric cancer. Would I have had the child had I known this was going to happen? I don’t think so. My heart was ripped painfully, and I nearly broke down during the course of treatment, and to this day, I don’t know if I’d have survived his death. But I took the odds that it was likely to happen, and would do it again, but not a certainty or more than a 50% chance. That’s my personal line at this point in time. Could change my mind, might not have been the case when I was younger. But , yes, I believe that the odds, as closely as they can be presented, and the full possibilities should be known, by all those who wish to see them. Some people will not want to know, and that is fine too.

Thank you for reading, and for all of your thoughtful comments. I try to keep the posts balanced, but tend to do entirely positive posts or posts that highlight the challenges. So without reading all of the posts, it might seem as if I am only focusing on the positive. The daily life type posts are the ones that feature more of the struggles. And like you mentioned in another comment, I don’t have the perspective of a parent with an older child or adult with Down syndrome, and it is wonderful to find those stories.

I am sorry that you had to go through a child’s cancer. There are too many children I know who have had leukemia, and it is something no family should have to endure.

With writing this blog post, I did think about the comparisons not being exactly the same–you are very correct that eating at a restaurant and going to college are nothing like raising a child who will be with you for a lifetime. However, the purpose of those comparisons was just to illustrate points about information–that a person in theory should take advice from someone who has experienced what they are advising about, and that information given should be focused only on accurate facts.

Again, I appreciate your taking the time to read the blog and comment.

I did read your posts, and you do stay with the positives, and that is what you should do as that is what you are advocating and promoting, which you do well. Some of my comments may have seemed like I was trying to bring you down, but what I feel is that the other side should at least be acknowledged, or the arguments, discussions (which you do extremely well) lack the full impact. The fact that is important is that though there are downsides and risks, to not take them is to lose the upsides that can be far more rewarding in life even with the pains that come with them. Having a child is setting oneself up for pain, starting with the first labor pang on for life. Some of us have it easier than other, but the risks for some of the most acute pain are right there with the joys of that sweet baby as s/he grows up. And they don’t, things don’t always turn out well. But the journey is what’ makes up life and can be exhilerating in the ups and downs, . But not for everyone, anyone.

It’s wonderful how you are so enjoying this stage of life with your children.

Catherine, I appreciate how you bring the other side of the discussion without negativity. Believe me, I have had some irate people comment on my posts and I always hold my breath when I see there is a new comment on a controversial piece. I did not feel like you were trying to bring me down. You wrote with respect, and I thank you for it.

Worst analogy ever. I won’t get into why, because I think you already know.

Your first paragraph contains false information and your reading audience needs to know that. I know this because I fully read the conversation that occurred and am a member on that particular board. Let me start this out by saying I have a living child with a condition that is terminated for. I have also terminated a pregnancy. I live both sides.

The person you speak of made it clear the CHD/T21 combo was unacceptable for HER. This is where you continually muddy the waters. You place women who terminate for T21 all into one bag. A bag labeled “Those who were clearly not educated properly during the prenatal screening process”. You also assume these woman go into it thinking “I am only going to listen to one side”. You say these woman have an agenda, as they are just waiting to pounce. I have yet to see a post by any of these women saying “You need to terminate your pregnancy.”

Let me ask this one simple question…..

If a woman went directly to you (and only you) and asked you everything you know about T21, read your blog, maybe went as far as meeting you and your son in person, what would you think of her if she still terminated?

Based on your past blog entries you are pigeonholing those who terminate, as women who just aren’t getting the right facts. That somehow these women are misled. So now a woman has gotten your “right” facts and she still terminates. What bag do you place her in?

Please stop attacking a group of woman who made the choice for themselves and their families. The choice that was right for them. I get how when you read others giving the “hard” facts about T21, you tend to take it personally…like they are somehow speaking about your son. I too cringe when I see terminations based on my son’s condition. But who I am to say someone else should be okay with his issues. One person’s “It can be okay” is definitely not another’s.

Check out her comments in this link–I don’t think I am misrepresenting her. If she only thought it was unacceptable to her, then why comment on every single post about Down syndrome on the PPD board? I really don’t get it.

And now to explain a little more fully where I am coming from. I’ll be really honest here, before I read the post on the TFMR board about T21 disconnect, I had no sympathy for the women who terminate for Ds. I thought they were selfish and didn’t want a child with Down syndrome interfering with their lifestyle. When I found the disconnect post, my eyes were opened to what those women went through. It seemed more understandable that they would make the choice because they didn’t have accurate information.

Honestly, if someone met my son and talked personally to me and then decided to terminate, I would be heartbroken.

Thank you for admitting that you also cringe when people terminate for your son’s condition. I think we are coming from a similar place, but the difference is that I feel strongly that abortion should not be anyone’s choice, and you think it should be. I am sorry you feel like I am attacking those that do, but until something changes, I will continue to write and advocate for people like my son.

Carrie, I would not think (and do not hope) that you are of the opinion, that all pregnant women are properly and well informed about T21 when it comes to a screening with a DS positive result.
As much as I am informed nearly all women, who get the early diagnosis (while pregnant) “aren’t getting the right facts”. Most of them get nearly nothing.
On the other hand there is no need to attack Katie in this tonality. As she is fighting for a unselfish and integer idea, she at least earns a polite comment. Also by you.

Advocate, yes. I believe you should absolutely advocate. But maybe we just have a different definition of advocating for our children.

“…every time a person posts anything related to Down syndrome a woman chimes in with negative links and information to “keep the conversation balanced” about Down syndrome.” This happens Katie, because you try so desperately to downplay the negative aspects in what you post, almost to a point where the negatives of T21 don’t exist. Your anti-abortion side seeps through so transparently and this particular board is not about pro-life vs. pro-choice. It’s about giving information, so that is why those negative links as you call them, are there. They are fact based, medical based and current. And you can’t assume everyone is in the same position as you to care for a child with special needs. SO much needs to be taken into consideration, not just “do I love this child?”. I can tell you my son’s diagnosis comes with 100’s of different types of scenarios. I want to know all of the good and ABSOLUTELY all of the bad. Even if the bad never happens, even if it only happens 1% of the time.

Whose advice do you choose to follow?
The person with first-hand experience.
What sort of information should be provided to expectant parents?
The information that affirms their child is worthy of life.

These four lines above are exactly why you need to stay off of the board. You are not impartial. The second answer screams to me that the negative should not be revealed to the expectant parents. There are plenty of other boards that I am sure could use your “advocacy”. This one is not one of them.

I completely agree with Katie. Carrie why does Katie need to stay off, because she is not impartial? How do you think you are? You’re promoting pro choice. I’ve seen it! How are any of these women being given all possible choices if people like yourself continue to want prolife pro Down syndrome silenced. Katie I love this article and analogies. Others are right that the comparisons are inadequete and not comparible. Killing a baby or encouraging other parents to do so is so much worse than not getting into the college of your dreams!

I am not promoting anything.
I don’t want anything silenced.
I do not believe all women are properly educated. (And I certainly hope that aren’t turning to BabyCenter as the end all be all education they receive!)
Giving medical based facts (that can be deemed negative for some) does not equal “go abort your baby”.

I do believe you should be able to post links on the board, but to turn around and say the “negative” links shouldn’t be there is yes, impartial – and it just seems the only debates that ever occur there stem around you and the GO’s have made it clear debate on beliefs is not welcome. It is not an anti-abortion PPD board. It is not a pro-TFMR board. And yes, both sides to impart their opinions at times at it gets out of control. I could care less about the debates here…but when I see you deal with a few bad apples and label those who terminate as not educated properly, well, I take offense. Just as you take offense to those who terminate.

But if we are talking proper education, don’t the negative links as you call them, need to be there too? It is not up to any of us on that board to decide what someone perceives as negative or positive. One persons negative is another person’s positive, so it becomes a moot point then, doesn’t it? It is up to us to just give the facts. Not emotion, facts. And forgive me, when I wrote my response, I probably also had in my head a particular post you made in the past “Before you abort your T21 baby….please read my blog” —- which then led the reader to a very clear statement on you feel about abortion. No one on the board ever says to someone who has a concern about a screen/soft marker/confirmed amnio – go abort, read my story on how I was terrified about all the what ifs and hurry, get yourself to clinic before time runs out. That is not how that board works. The board is there to offer information to women who have received a poor diagnosis. If someone were to ask me about my kid’s diagnosis, I can tell you I would leave the emotional side out of it and give all the possible scenarios that can occur, regardless of odds. I had doctors who ONLY focused on the positive and to me that was just dumbing down the whole story that was about to become my life and his. I was actually offended to hear some doctors says “you will never know he has this”. How does it help me if I don’t know the whole story? I am not in ANY way saying you should not tell your story. Tell it and tell it loudly…just don’t paint those of us who choose differently into a corner labeled “misled”.

One of my pro-choice fellow DS parents tried posting a completely impartial info-based post and that blew up in debate too, so no it doesn’t all stem from me.
I do want to clarify that my point on giving information to prospective parents which supports that their child is worthy of life stems only from the debate on whether abortion should be named specifically in the information given.
Also, I know I got off on the wrong foot on the ppd board. I have learned a lot, and feel strongly about staying around to share experience. As I told the former GO Liz, I won’t be making any more posts on the board.
I never tried to pretend I was not pro-life, and I represent all aspects of parenting as a whole in my blog, just not on every post.

I don’t think it matters if you’re pro anything. These babies are wanted babies who happen to have a disability. The first world countries we live in should be discouraging abortion based on a diagnosis of disability. Parents of kids with DS should be supporting that ethical view too, because, if for no other reason, discrimination, will negatively affect the future of our children. Thanks for your writings Katie J.

It shouldn’t matter whether your pro this or pro that. These are wanted babies who are diagnosed as having a disability. First world countries should be discouraging disability based abortion, we can well support this minority group. Parents should also be discouraging it, if only for the reason that such legislation leads to discrimination against our children. In 15 years of being a DS parent I’ve never been overwhelmed by positivity, we need more like you! Thanks for your writings and positivity Katie J.